Polyposis syndromes

Question 1

mutation of APC tumor suppressor gene on chromosome 5q.

Answer 1

Familial adenomatous polyposis

Question 2

2-hit hypothesis.

Answer 2

Familial adenomatous polyposis

Question 3

Thousands of polyps arise starting after puberty

Answer 3

Familial adenomatous polyposis

Question 4

pancolonic; always involves rectum

Answer 4

Familial adenomatous polyposis

Question 5

Prophylactic colectomy or else 100% progress to CRC.

Answer 5

Familial adenomatous polyposis

Question 6

Gardner syndrome=FAP + 3?

Answer 6

1. osseous and soft tissue tumors,
2. congenital hypertrophy of retinal pigment epithelium,
3. impacted/supernumerary teeth.

Question 7

FAP + malignant CNS tumor

Answer 7

Turcot syndrome

Turcot = Turban.

Question 8

numerous hamartomas throughout GI tract, along with hyperpigmented mouth, lips, hands, genitalia.

Answer 8

Peutz-Jeghers syndrome

Question 9

Associated with incr. risk of breast and GI cancers (eg, colorectal, stomach, small bowel, pancreatic).

Answer 9

Peutz-Jeghers syndrome

Question 10

in children (typically < 5 years old)

Answer 10

Juvenile polyposis syndrome

Question 11

Numerous hamartomatous polyps in the colon, stomach, small bowel. Associated with incr. risk of CRC.

Answer 11

Juvenile polyposis syndrome

Question 12

mutation of DNA mismatch repair genes with subsequent microsatellite instability.

Answer 12

Lynch syndrome

Question 13

Previously known as hereditary nonpolyposis colorectal cancer (HNPCC)

Answer 13

Lynch syndrome

Question 14

Proximal colon is always involved.

Answer 14

Lynch syndrome

Question 15

∼ 80% progress to CRC.

Answer 15

Lynch syndrome

Question 16

Lynch syndrome assoc w/ which 3 ca?

Answer 16

1. endometrial,
2. ovarian, and
3. skin cancers